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Summary
CYSTIC FIBROSIS (CF)
CYSTIC FIBROSIS CYSTIC FIBROSIS
219700
OMIM = Online Medalian Inheritance of Men
586
7q31.2
  • aerolized rhDNase
  • anti-inflammatory therapy (ibuprofen)
  • antibiotics
  • heart/lung/pancreas/liver transplantation
  • high-caloric nutrition
  • mycolytics
  • pancreatic enzymes
  • physiotherapy
  • vitamin A
  • vitamin D
  • vitamin E (alpha-tocopherol)
  • vitamin K
autosomal recessive
symptoms
cirrhosis or fibrosis of liver
failure to thrive
growth retardation
ileus
infections (severe or recurrent)
jaundice
liver failure
nasal polyposis
onset, adolescent
onset, adult
onset, child
onset, infant
onset, newborn
pancreatic insufficiency
pneumonia
pseudotumor cerebri
rectal prolaps
respiratory insufficiency
laboratory finding
Chloride50.0080.0020.0030.00mmol/lsweat
Sodium50.0080.0020.0030.00mmol/lsweat
Immunreactive trypsin 22.0044.00increasedserum, blood spots
DNA
Vitamin D decreasedserum
Vitamin A decreasedserum
Vitamin E decreasedserum
Glucose tolerance, impaired serum
Literature
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Nakajima Het al.Phosphofructokinase deficiency past, present and futureCurr Mol Med22197-2122002
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Exantus Jet al.Acute renal failure in a patient with phosphofructokinase deficiencyPediatr Nephrol191111-1132004
Cheng LSet al.Genomewide scan for gout in taiwanese aborigines reveals linkage to chromosome 4q25Am J Hum Genet753498-5032004
Accominotti Met al.Determination of zinc in blood serum by electrothermal atomic absorption with matrix modificationClin Chim Acta1790991988
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991